Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"FSHD"”.
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Mechanisms of toxicity in cell models of FSHD
… for facioscapulohumeral muscular dystrophy (FSHD). Whereas DUX4 expression normally occurs during early embryonic development, ectopic DUX4 expression is highly toxic in human cells. In my thesis work, using a new cell model with regulated expression of DUX4, I found that expression of DUX4 …
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Altered FRG1 Levels During Xenopus Laevis Development Leads to Muscular and Vascular Phenotypes Supporting a Role for the Misregulation of FRG1 in FSHD
… for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which in turn is what ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate gene whose misexpression may lead to FSHD. As FSHD pathology is most …
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Characterization of C. Elegans Pat-9 and Frg-1, Genes Critical for Body Wall Muscle Development
For the FSHD project, a C. elegans homolog of the FSHD candidate gene FRG1 (FSHD region gene 1), ZK1010.3, was identified, cloned, renamed frg-1, and characterized. Surprisingly, both the endogenous and overexpressed FRG-1 was localized to the nucleus and the cytoplasm, contrary to what had been …
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MODELING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY USING PRIMARY AND PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant degenerative muscle disease with no cure or treatment. The genetic cause of FSHD is the reduction of the copy number of subtelomeric D4Z4 repeats at 4q35 encoding Double Homeobox 4 (DUX4) protein, which is a potent transcription …
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Characterization of C. elegans PAT-9 and FRG-1, which are critical for body wall muscle development
… for facioscapulohumeral muscular dystrophy (FSHD) pathophysiology. A previous genetic screen in C. elegans investigating early muscle development isolated mutants producing a pat (paralyzed, elongation arrested at two-fold) phenotype. This project focused on identifying and characterizing one …
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Before and after DUX4: deconstructing its web of silencers and defining its long-term impact on cellular processes
Facioscapulohumeral dystrophy (FSHD) is driven by a loss of epigenetic repression at the D4Z4 repeat region, leading to aberrant expression of early embryonic transcription factor Double Homeobox 4 (DUX4) and an embryonic transcriptional program in skeletal muscle. Mechanisms that initiate and …
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Interrogating Dux4 Mrna 3′ End Processing
… gene for Facioscapulohumeral Dystrophy (FSHD). FSHD is the third most common muscular dystrophy, and is characterized by progressive muscle weakness primarily in the upper body. In individuals diagnosed with FSHD, Dux4 is inappropriately expressed in somatic cells due to two conditions. …
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Human FRG1 is an Actin-Bundling and a RNA-Associated Protein with Distinct Subcellular Localizations
Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is critical for development of the vertebrate musculature and vasculature, however its precise molecular function is unknown. Because of its location 125 kb proximal to the FSHD1A lesion, a deletion in a subtelomeric macrosatellite …
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A DE NOVO COMPUTATIONAL DISCOVERY PLATFORM FROM RNA TO PROTEIN
… for facioscapulohumeral muscular dystrophy (FSHD). Our results show that misexpression of DUX4, which encodes an embryonic transcription factor, impairs RNA metabolism by inhibiting Nonsense-Mediated Decay, thus leading to the accumulation of incomplete transcripts and truncated proteins. De …
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Microrna-mediated regulation and the fragile X family of proteins
… in fascioscapulohumeral muscular dystrophy (FSHD) and its absence or misregulation has been shown to cause cardiac abnormalities in mice and zebrafish. To examine miRNA-mediated regulation of FMRP and FXR1P, we studied their expression in a conditional Dicer knockdown cell line, DT40. We …
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Klinik und Genetik der myotonen Dystrophie Curschmann-Steinert, der facio-scapulo-humeralen Muskeldystrophie und der Gliedergürtelmuskeldystrophie
Im ersten Teil dieser Arbeit wird überprüft, inwieweit bei einer Patientengruppe, die molekulargenetisch negativ auf fazioscapulohumerale Muskeldystrophie untersucht wurde, differentialdiagnostisch eine myotone Dystrophie in Frage kommt. Der zweite Abschnitt hat zum Ziel, zu kontrollieren, ob im …